Canonical Allele Identifier: CA16621344
Gene: PHEX HGNC NCBI
PTCHD1-AS HGNC NCBI

Linked Data

dbSNP Id: rs1064794150

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22247900T>C , CM000685.2:g.22247900T>C GRCh38
NC_000023.10:g.22266017T>C , CM000685.1:g.22266017T>C GRCh37
NC_000023.9:g.22175938T>C NCBI36
NG_007563.2:g.220097T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000683162.1:c.*135T>C (PHEX) ENSP00000508059.1:n.*135T>C
ENST00000683289.1:c.624+20289T>C (PHEX) ENSP00000508195.1:n.624+20289T>C
ENST00000683917.1:n.981T>C (PHEX)
ENST00000684356.1:c.751T>C (PHEX) ENSP00000507619.1:p.Cys251Arg
ENST00000684745.1:n.1871T>C (PHEX)
ENST00000379374.5:c.2197T>C (PHEX) MANE Select ENSP00000368682.4:p.Cys733Arg
ENST00000379374.4:c.2197T>C (PHEX) ENSP00000368682.4:p.Cys733Arg
NM_000444.5:c.2197T>C (PHEX) NP_000435.3:p.Cys733Arg
NM_001282754.1:c.*32T>C (PHEX) NP_001269683.1:n.*32T>C
XM_011545533.1:c.1441T>C (PHEX) XP_011543835.1:p.Cys481Arg
XM_011545534.1:c.1441T>C (PHEX) XP_011543836.1:p.Cys481Arg
XM_011545536.1:c.1090T>C (PHEX) XP_011543838.1:p.Cys364Arg
XR_950533.1:n.140+6039A>G
XR_950534.1:n.127+6039A>G
NR_073010.2:n.850+6039A>G (PTCHD1-AS)
XM_011545536.2:c.1090T>C (PHEX) XP_011543838.1:p.Cys364Arg
XM_017029579.1:c.1441T>C (PHEX) XP_016885068.1:p.Cys481Arg
XM_024452390.1:c.1906T>C (PHEX) XP_024308158.1:p.Cys636Arg
XR_001755695.1:n.3037T>C (PHEX)
NM_000444.6:c.2197T>C (PHEX) MANE Select NP_000435.3:p.Cys733Arg
NM_001282754.2:c.*32T>C (PHEX) NP_001269683.1:n.*32T>C